Variant report

Variant	rs1494100
Chromosome Location	chr12:105090185-105090186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105083736..105085852-chr12:105089088..105090777,2	K562	blood:
2	chr12:105080176..105082660-chr12:105088198..105091066,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11610462	0.86[EUR][1000 genomes]
rs312141	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105067800-105096000	Weak transcription	K562	blood
2	chr12:105080400-105131800	Weak transcription	NHEK	skin
3	chr12:105083600-105091000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:105083600-105103600	Weak transcription	Placenta	Placenta
5	chr12:105085000-105097800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:105085600-105090200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:105085800-105090200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:105086200-105090200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:105086200-105096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:105086400-105095600	Weak transcription	Fetal Heart	heart
11	chr12:105086400-105104400	Weak transcription	A549	lung
12	chr12:105086600-105091000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:105086800-105103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:105087000-105090200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:105087200-105090200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:105087800-105090200	Enhancers	NH-A	brain
17	chr12:105087800-105090200	Enhancers	NHLF	lung
18	chr12:105087800-105090200	Enhancers	Osteobl	bone
19	chr12:105087800-105090400	Enhancers	Fetal Thymus	thymus
20	chr12:105087800-105090600	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:105087800-105093800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:105087800-105094600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:105087800-105095600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:105087800-105096200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:105088000-105090200	Enhancers	NHDF-Ad	bronchial
26	chr12:105088400-105090200	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:105088600-105090200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:105088600-105090400	Enhancers	Primary B cells from cord blood	blood
29	chr12:105089000-105090400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:105089000-105092200	Weak transcription	Small Intestine	intestine
31	chr12:105089000-105105600	Weak transcription	Esophagus	oesophagus
32	chr12:105089600-105092000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:105089600-105095400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:105089800-105091000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:105089800-105091800	Weak transcription	Right Atrium	heart
36	chr12:105089800-105092200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:105089800-105092200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:105089800-105096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:105089800-105097400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:105090000-105090200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:105090000-105090200	Enhancers	GM12878-XiMat	blood
42	chr12:105090000-105090400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:105090000-105090400	Enhancers	Dnd41	blood
44	chr12:105090000-105090600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:105090000-105090800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:105090000-105091200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:105090000-105091200	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:105090000-105091600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:105090000-105091800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:105090000-105091800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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